Genomenon Extends its Lead over HGMD in the 4th Quarter

Genomenon® announced that over 175,000 recently documented genetic variants (DNA mutations) have been added to the Mastermind® Genomic Search Engine in the 4th quarter of 2019, for a cumulative total of more than 5.9 million genetic variants. This number reflects the rapidly accelerating pace of genomic discovery, and stands in stark contrast to the number manually curated by HGMD, the previous “gold standard” tool for variant interpretation: Qiagen added just under 11,700 variants in the HGMD Q4 2019 release, for a total of less than 276,000 genetic variants.

For many children and adults with rare diseases, definitive diagnosis is challenging due to the difficulty doctors face in connecting patient DNA with the scientific evidence found in the medical research describing the causative genetic variants. This limits the ability of doctors to diagnose and treat rare disease patients. The team at Genomenon created the Mastermind Genomic Search Engine to overcome this challenge.

Since Mastermind’s launch in 2017, the world’s top clinical laboratories and pharmaceutical companies have come to rely on Genomenon’s patented Artificial Intelligence processes to keep pace with the explosive growth of genomic research. Manual curation used for databases such as HGMD simply cannot scale, as demonstrated by the numbers above.

Rady Children’s Institute for Genomic Medicine, the organization that holds the world record for the fastest genetic diagnosis, uses Mastermind to ensure the most comprehensive and up-to-date information is available to doctors diagnosing and making treatment decisions for babies born with rare diseases.

"We are world-renowned for the speed of our WGS (whole genome sequencing) interpretations, and using Mastermind has been a crucial step in accelerating our progress." said Shareef Nahas, Senior Director, Clinical Operations, Rady Children's Institute for Genomic Medicine.

The stakes are high with variant interpretation, when lost time can mean lost lives. Ready access to the most comprehensive and updated information is essential. Below are some statistics that illustrate the challenge of finding this data.

PubMed (the U.S. government database of medical literature), which is limited to article titles and abstracts, contains less than 6.5% of all variants found across the medical literature. Variants found in PubMed tend to be the more “popular” variants that researchers mention in the publication title and abstract.

69.5% of all variants are found only in the full text of medical articles - not in the title, abstract or supplemental material.

25.7% of all variants are found in the supplemental data (additional materials provided with genetic literature by the authors) a quarter of which are identified only in the supplemental data.

Mastermind Genomic Search Engine has been integrated into many of the top clinical decision support platforms including Congenica, Fabric Genomics, and GenomOncology in order to provide their users access to the most comprehensive coverage of the genomic evidence needed to interpret variants. With more partner integrations in progress, Mastermind is providing the data needed to more quickly diagnose, treat, and cure rare diseases and cancer.

Mastermind Genomic Landscapes deliver a comprehensive view of genomic drivers of any disease to pharma and biopharma companies. Five of the top 25 pharma companies are using this data to inform their precision medicine development, deliver genomic biomarkers for clinical trial target selection, and support CDx regulatory submissions with empirical evidence.

About Genomenon

Genomenon connects patient DNA with the billions of dollars spent on research to help doctors diagnose and cure cancer patients and babies with rare diseases.